Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy

Abstract excerpt

Syndromic congenital tufting enteropathy (CTE) is a life-threatening recessive human genetic disorder, which is caused by mutations in SPINT2, encoding the protease inhibitor, HAI-2, and is characterized by severe intestinal dysfunction. We recently reported the generation of a Spint2-deficient mouse model of CTE. Here, we show that the CTE-associated early-onset intestinal failure and lethality of...

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